KCNE1

potassium voltage-gated channel subfamily E regulatory subunit 1

3 disorders 1 untyped 1 causative 1 susceptibility 21q22.12 gene with protein product

HGNC:6240 Monarch NCBI Gene 3753 ENSG00000180509 UniProt P15382 OMIM 176261

Aliases: minK, IsK, JLNS2, LQT5.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Jervell and Lange-Nielsen Syndrome 2	causative	mechanism: Biallelic KCNE1 Loss of Function
Noise Induced Hearing Loss	susceptibility
Familial Long QT Syndrome	untyped Limited evidence for unprovoked congenital LQTS; strong for acquired	mechanism: QT-Prolonging Drug Unmasking of Reduced Repolarization Reserve subtype: Type 5 scoped to subtype: Type 5

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
long QT syndrome 5 MONDO:0013372	AD	Limited 2020-12-15	Familial Long QT Syndrome untyped

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Jervell and Lange-Nielsen Syndrome 2
xenobiotic_cardiac_channel_perturbation via Familial Long QT Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.